A Rare Case Report of Neonatal Neurofibromatosis Type 1 Presented with Giant Faciocervical Mass and Complicated with HIE.

1 例罕见的新生儿 1 型神经纤维瘤病伴巨大面颈部肿块并合并 HIE 。

• 发表时间: 2023
• 来源期刊: Int Med Case Rep J
• DOI: 10.2147/IMCRJ.S446981
• PMID: 38116463
• 文章类型: Case Reports
• 作者列表: Liu B,Wang W,Bi J,Huo R

关键词: NF1 gene variation; neonatal hypoxic-ischemic encephalopathy; neurofibromatosis type 1; whole-exome sequencing

Abstract

A newborn with giant faciocervical mass and presented with asphyxia during birth was admitted to the hospital. After stabilizing her vital sign, we provided the patient with image examinations and whole-exome sequencing, which revealed a heterozygous variation of neurofibromatosis type 1 (NF1). The final diagnosis of the patient was NF1 complicated with neonatal hypoxic-ischemic encephalopathy (NHIE). During hospitalization, the patient received comprehensive and systematic care. There was no reports of similar cases in the literature. So, this report aimed to elucidate the special clinical manifestations, diagnosis, treatment and prognosis of NF1 complicated with NHIE by analyzing the clinical data of the patient and her family and reviewing relevant literature.

摘要

一名患有巨大面颈部肿块并在出生时出现窒息的新生儿入院。在她的生命体征稳定之后,我们为患者提供了图像检查和全外显子组测序，揭示了1型神经纤维瘤病（NF1）的杂合变异。最终诊断为NF1合并新生儿缺氧缺血性脑病(NHIE)。住院期间,患者接受了全面系统的护理。文献中没有类似病例的报道。所以,本报告旨在阐明特殊的临床表现，诊断,通过分析NF1合并NHIE患者及家属的临床资料并复习相关文献,探讨NF1合并NHIE的治疗及预后。